Q92187 (SIA8D_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 113.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase EC=2.4.99.- Alternative name(s): Alpha-2,8-sialyltransferase 8D Polysialyltransferase-1 Sialyltransferase 8D Short name=SIAT8-D Sialyltransferase St8Sia IV Short name=ST8SiaIV | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 359 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid (PSA), which is present on the embryonic neural cell adhesion molecule (N-CAM), necessary for plasticity of neural cells. |
| Pathway | |
| Subcellular location | Golgi apparatus membrane; Single-pass type II membrane protein Potential. |
| Tissue specificity | Highly expressed in fetal brain, lung and kidney and in adult heart, spleen and thymus. Present to a lesser extent in adult brain, placenta, lung, large and small intestine and peripheral blood leukocytes. |
| Sequence similarities | Belongs to the glycosyltransferase 29 family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Golgi apparatus Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Signal-anchor Transmembrane Transmembrane helix |
| Molecular function | Glycosyltransferase Transferase |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | N-glycan processing Inferred from direct assay PubMed 10766765. Source: BHF-UCL axon guidanceTraceable author statement. Source: Reactome ganglioside biosynthetic processInferred from direct assay PubMed 10766765. Source: BHF-UCL |
| Cellular_component | Golgi membrane Traceable author statement. Source: Reactome integral to Golgi membraneInferred from electronic annotation. Source: InterPro |
| Molecular_function | alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity Inferred from direct assay PubMed 10766765. Source: BHF-UCL sialic acid bindingInferred by curator PubMed 10766765. Source: BHF-UCL |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q92187-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q92187-2) The sequence of this isoform differs from the canonical sequence as follows: 169-359: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 359 | 359 | CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase | PRO_0000149293 | |||||||
Regions | |||||||||||
| Topological domain | 1 – 7 | 7 | Cytoplasmic Potential | ||||||||
| Transmembrane | 8 – 20 | 13 | Helical; Signal-anchor for type II membrane protein; Potential | ||||||||
| Topological domain | 21 – 359 | 339 | Lumenal Potential | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 50 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 74 | 1 | N-linked (GlcNAc...) Ref.6 | ||||||||
| Glycosylation | 119 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 204 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 219 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 327 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 142 ↔ 292 | Ref.6 | |||||||||
| Disulfide bond | 156 ↔ 356 | Ref.6 | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 169 – 359 | 191 | Missing in isoform 2. | VSP_044867 | |||||||
| Natural variant | 7 | 1 | R → K. Ref.5 Corresponds to variant rs199768560 [ dbSNP | Ensembl ]. | VAR_068976 | |||||||
| Natural variant | 92 | 1 | E → G in a colorectal cancer sample; somatic mutation. Ref.7 | VAR_036169 | |||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Expression cloning of a human polysialyltransferase that forms the polysialylated neural cell adhesion molecule present in embryonic brain." Nakayama J., Fukuda M.N., Fredette B., Ranscht B., Fukuda M. Proc. Natl. Acad. Sci. U.S.A. 92:7031-7035(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Fetal brain. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Trachea. |
| [3] | "The DNA sequence and comparative analysis of human chromosome 5." Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. Rubin E.M.Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT LYS-7. Tissue: Brain and Lung. |
| [6] | "Unique disulfide bond structures found in ST8Sia IV polysialyltransferase are required for its activity." Angata K., Yen T.Y., El-Battari A., Macher B.A., Fukuda M. J. Biol. Chem. 276:15369-15377(2001) [PubMed] [Europe PMC] [Abstract] Cited for: DISULFIDE BONDS, GLYCOSYLATION AT ASN-74. |
| [7] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] GLY-92. |
| + | Additional computationally mapped references. |
Web resources
| GGDB GlycoGene database |
| Functional Glycomics Gateway - GTase ST8Sia IV |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | L41680 mRNA. Translation: AAC41775.1. AK292872 mRNA. Translation: BAF85561.1. AC010411 Genomic DNA. No translation available. AC117530 Genomic DNA. No translation available. CH471086 Genomic DNA. Translation: EAW49104.1. CH471086 Genomic DNA. Translation: EAW49105.1. BC027866 mRNA. Translation: AAH27866.1. BC053657 mRNA. Translation: AAH53657.1. |
| IPI | IPI00020201. |
| PIR | I59403. |
| RefSeq | NP_005659.1. NM_005668.4. NP_778222.1. NM_175052.1. |
| UniGene | Hs.308628. |
3D structure databases | |
| ProteinModelPortal | Q92187. |
| ModBase | Search... |
Protein family/group databases | |
| CAZy | GT29. Glycosyltransferase Family 29. |
PTM databases | |
| PhosphoSite | Q92187. |
Polymorphism databases | |
| DMDM | 2494834. |
Proteomic databases | |
| PaxDb | Q92187. |
| PRIDE | Q92187. |
Protocols and materials databases | |
| DNASU | 7903. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000231461; ENSP00000231461; ENSG00000113532. ENST00000451528; ENSP00000428914; ENSG00000113532. |
| GeneID | 7903. |
| KEGG | hsa:7903. |
| UCSC | uc003knk.3. human. |
Organism-specific databases | |
| CTD | 7903. |
| GeneCards | GC05M100171. |
| HGNC | HGNC:10871. ST8SIA4. |
| HPA | HPA051126. |
| MIM | 602547. gene. |
| neXtProt | NX_Q92187. |
| PharmGKB | PA35772. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG324948. |
| HOGENOM | HOG000232070. |
| HOVERGEN | HBG056466. |
| InParanoid | Q92187. |
| KO | K06614. |
| OMA | DSGCGKE. |
| OrthoDB | EOG4DFPNN. |
| PhylomeDB | Q92187. |
Enzyme and pathway databases | |
| Reactome | REACT_111045. Developmental Biology. |
| UniPathway | UPA00378. |
Gene expression databases | |
| ArrayExpress | Q92187. |
| Bgee | Q92187. |
| CleanEx | HS_ST8SIA4. |
| Genevestigator | Q92187. |
| GermOnline | ENSG00000113532. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001675. Glyco_trans_29. IPR012163. Sialyl_trans. [Graphical view] |
| Pfam | PF00777. Glyco_transf_29. 1 hit. [Graphical view] |
| PIRSF | PIRSF005557. Sialyl_trans. 1 hit. |
| ProtoNet | Search... |
Other | |
| ChiTaRS | ST8SIA4. human. |
| GenomeRNAi | 7903. |
| NextBio | 30362. |
| SOURCE | Search... |
Entry information
| Entry name | SIA8D_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q92187 Secondary accession number(s): A8KA07 Q92693 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 5 Human chromosome 5: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with
